COL6A1

Identifiers

COL6A1, OPLL, BTHLM1, UCHMD1, collagen type VI alpha 1, collagen type VI alpha 1 chain

External IDs

MGI: 88459 HomoloGene: 1391 GeneCards: COL6A1

Gene ontology
Molecular function	• platelet-derived growth factor binding
Cellular component	• extracellular matrix • proteinaceous extracellular matrix • extracellular region • collagen type VI trimer • lysosomal membrane • sarcolemma • collagen trimer • endoplasmic reticulum lumen • extracellular exosome • membrane • protein complex • extracellular space
Biological process	• collagen catabolic process • cellular response to amino acid stimulus • protein heterotrimerization • cell adhesion • extracellular matrix organization • endodermal cell differentiation • osteoblast differentiation
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


1291


12833

Ensembl


ENSG00000142156


ENSMUSG00000001119

UniProt


P12109


Q04857

RefSeq (mRNA)


NM_001848


NM_009933

RefSeq (protein)


NP_001839


NP_034063

Location (UCSC)

Chr 21: 45.98 – 46.01 Mb

Chr 10: 76.71 – 76.73 Mb

PubMed search

Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.

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Wikipedia